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Laboratory: Genomics
Test Name:
ACUTE INTERMITTENT PORPHYRIA (AIP) - HMBS GENE - (B)
Test Code: MD
Clinical Information:
Only two mutations, 161-1G>C and p.Arg225X, in the porphobilinogen deaminase (HBMS) gene are tested for.  Patients must have a family history for one of these two specific mutations. 
Collection Devices:
Specimen Required:
Blood: 8.0 mL
Pediatric Blood: 3.0 mL

Specimen must be kept at room temperature. Pediatric volume for infants only.
Referral:
Requisition:
Reference Values:
An interpretive report will be sent.
Availability:
Within 8 Weeks
See Also:
More Information:
DO NOT centrifuge.  Specimen is forwarded to Health Sciences Centre - MS5 for analysis.  Store and ship specimens at room temperature.  Specimens sent for Molecular tests are not to be used for other tests (ie. CBC).